V67I (p.Val67Ile) variant of MMAA (Q8IVH4)
V67I (p.Val67Ile) in MMAA (Q8IVH4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
V67I (p.Val67Ile) variant details
- p.Val67Ile
- gnomAD 4-145639338-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.223
- REVEL 0.22
- ESM-1b 0.00
- AlphaMissense 0.06
- CADD 13.30
- PolyPhen-2 0.00
- SIFT 0.33
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available